Canonical Allele Identifier: CA1751440218

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148829670_148829672delinsCAA , CM000669.2:g.148829670_148829672delinsCAA	GRCh38
NC_000007.13:g.148526762_148526764delinsCAA , CM000669.1:g.148526762_148526764delinsCAA	GRCh37
NC_000007.12:g.148157695_148157697delinsCAA	NCBI36
NG_032043.1:g.59678_59680delinsTTG , LRG_531:g.59678_59680delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.632+56_632+58delinsTTG
ENST00000682317.1:c.367+56_367+58delinsTTG	ENSP00000508286.1:n.367+56_367+58delinsTTG
ENST00000682401.1:n.499+56_499+58delinsTTG
ENST00000683292.1:c.157+56_157+58delinsTTG	ENSP00000507503.1:n.157+56_157+58delinsTTG
ENST00000683744.1:c.484+56_484+58delinsTTG	ENSP00000506949.1:n.484+56_484+58delinsTTG
ENST00000684300.1:c.367+56_367+58delinsTTG	ENSP00000508407.1:n.367+56_367+58delinsTTG
ENST00000320356.7:c.484+56_484+58delinsTTG MANE Select	ENSP00000320147.2:n.484+56_484+58delinsTTG
ENST00000320356.6:c.484+56_484+58delinsTTG	ENSP00000320147.2:n.484+56_484+58delinsTTG
ENST00000350995.6:c.367+56_367+58delinsTTG	ENSP00000223193.2:n.367+56_367+58delinsTTG
ENST00000460911.5:c.484+56_484+58delinsTTG	ENSP00000419711.1:n.484+56_484+58delinsTTG
ENST00000476773.5:c.457+56_457+58delinsTTG	ENSP00000419050.1:n.457+56_457+58delinsTTG
ENST00000478654.5:c.457+56_457+58delinsTTG	ENSP00000417062.1:n.457+56_457+58delinsTTG
ENST00000483012.1:c.*228+56_*228+58delinsTTG	ENSP00000417704.1:n.*228+56_*228+58delinsTTG
ENST00000483967.5:c.457+56_457+58delinsTTG	ENSP00000419856.1:n.457+56_457+58delinsTTG
ENST00000492143.5:c.484+56_484+58delinsTTG	ENSP00000417377.1:n.484+56_484+58delinsTTG
ENST00000498186.5:n.615+56_615+58delinsTTG
NM_001203247.1:c.484+56_484+58delinsTTG	NP_001190176.1:n.484+56_484+58delinsTTG
NM_001203248.1:c.457+56_457+58delinsTTG	NP_001190177.1:n.457+56_457+58delinsTTG
NM_001203249.1:c.457+56_457+58delinsTTG	NP_001190178.1:n.457+56_457+58delinsTTG
NM_004456.4:c.484+56_484+58delinsTTG , LRG_531t1:c.484+56_484+58delinsTTG	NP_004447.2:n.484+56_484+58delinsTTG
NM_152998.2:c.367+56_367+58delinsTTG	NP_694543.1:n.367+56_367+58delinsTTG
XM_005249962.3:c.508+56_508+58delinsTTG	XP_005250019.1:n.508+56_508+58delinsTTG
XM_005249963.3:c.481+56_481+58delinsTTG	XP_005250020.1:n.481+56_481+58delinsTTG
XM_005249964.3:c.481+56_481+58delinsTTG	XP_005250021.1:n.481+56_481+58delinsTTG
XM_011515883.1:c.508+56_508+58delinsTTG	XP_011514185.1:n.508+56_508+58delinsTTG
XM_011515884.1:c.484+56_484+58delinsTTG	XP_011514186.1:n.484+56_484+58delinsTTG
XM_011515885.1:c.481+56_481+58delinsTTG	XP_011514187.1:n.481+56_481+58delinsTTG
XM_011515886.1:c.460+56_460+58delinsTTG	XP_011514188.1:n.460+56_460+58delinsTTG
XM_011515887.1:c.457+56_457+58delinsTTG	XP_011514189.1:n.457+56_457+58delinsTTG
XM_011515888.1:c.457+56_457+58delinsTTG	XP_011514190.1:n.457+56_457+58delinsTTG
XM_011515889.1:c.418+56_418+58delinsTTG	XP_011514191.1:n.418+56_418+58delinsTTG
XM_011515890.1:c.391+56_391+58delinsTTG	XP_011514192.1:n.391+56_391+58delinsTTG
XM_011515891.1:c.385+56_385+58delinsTTG	XP_011514193.1:n.385+56_385+58delinsTTG
XM_011515892.1:c.508+56_508+58delinsTTG	XP_011514194.1:n.508+56_508+58delinsTTG
XM_011515893.1:c.391+56_391+58delinsTTG	XP_011514195.1:n.391+56_391+58delinsTTG
XM_011515894.1:c.367+56_367+58delinsTTG	XP_011514196.1:n.367+56_367+58delinsTTG
XM_011515895.1:c.364+56_364+58delinsTTG	XP_011514197.1:n.364+56_364+58delinsTTG
XM_011515896.1:c.391+56_391+58delinsTTG	XP_011514198.1:n.391+56_391+58delinsTTG
XM_011515897.1:c.157+56_157+58delinsTTG	XP_011514199.1:n.157+56_157+58delinsTTG
XM_011515898.1:c.157+56_157+58delinsTTG	XP_011514200.1:n.157+56_157+58delinsTTG
XM_011515899.1:c.508+56_508+58delinsTTG	XP_011514201.1:n.508+56_508+58delinsTTG
XM_011515900.1:c.508+56_508+58delinsTTG	XP_011514202.1:n.508+56_508+58delinsTTG
XM_011515901.1:c.508+56_508+58delinsTTG	XP_011514203.1:n.508+56_508+58delinsTTG
XM_011515902.1:c.508+56_508+58delinsTTG	XP_011514204.1:n.508+56_508+58delinsTTG
XM_005249962.4:c.508+56_508+58delinsTTG	XP_005250019.1:n.508+56_508+58delinsTTG
XM_005249963.4:c.481+56_481+58delinsTTG	XP_005250020.1:n.481+56_481+58delinsTTG
XM_005249964.4:c.481+56_481+58delinsTTG	XP_005250021.1:n.481+56_481+58delinsTTG
XM_011515883.2:c.508+56_508+58delinsTTG	XP_011514185.1:n.508+56_508+58delinsTTG
XM_011515884.2:c.484+56_484+58delinsTTG	XP_011514186.1:n.484+56_484+58delinsTTG
XM_011515885.2:c.481+56_481+58delinsTTG	XP_011514187.1:n.481+56_481+58delinsTTG
XM_011515886.2:c.460+56_460+58delinsTTG	XP_011514188.1:n.460+56_460+58delinsTTG
XM_011515887.3:c.457+56_457+58delinsTTG	XP_011514189.1:n.457+56_457+58delinsTTG
XM_011515888.2:c.457+56_457+58delinsTTG	XP_011514190.1:n.457+56_457+58delinsTTG
XM_011515889.2:c.418+56_418+58delinsTTG	XP_011514191.1:n.418+56_418+58delinsTTG
XM_011515890.2:c.391+56_391+58delinsTTG	XP_011514192.1:n.391+56_391+58delinsTTG
XM_011515891.3:c.385+56_385+58delinsTTG	XP_011514193.1:n.385+56_385+58delinsTTG
XM_011515892.2:c.508+56_508+58delinsTTG	XP_011514194.1:n.508+56_508+58delinsTTG
XM_011515893.2:c.391+56_391+58delinsTTG	XP_011514195.1:n.391+56_391+58delinsTTG
XM_011515894.2:c.367+56_367+58delinsTTG	XP_011514196.1:n.367+56_367+58delinsTTG
XM_011515895.2:c.364+56_364+58delinsTTG	XP_011514197.1:n.364+56_364+58delinsTTG
XM_011515896.2:c.391+56_391+58delinsTTG	XP_011514198.1:n.391+56_391+58delinsTTG
XM_011515897.2:c.157+56_157+58delinsTTG	XP_011514199.1:n.157+56_157+58delinsTTG
XM_011515898.2:c.157+56_157+58delinsTTG	XP_011514200.1:n.157+56_157+58delinsTTG
XM_011515899.3:c.508+56_508+58delinsTTG	XP_011514201.1:n.508+56_508+58delinsTTG
XM_011515901.3:c.508+56_508+58delinsTTG	XP_011514203.1:n.508+56_508+58delinsTTG
XM_017011817.2:c.508+56_508+58delinsTTG	XP_016867306.1:n.508+56_508+58delinsTTG
XM_017011818.1:c.460+56_460+58delinsTTG	XP_016867307.1:n.460+56_460+58delinsTTG
XM_017011819.1:c.508+56_508+58delinsTTG	XP_016867308.1:n.508+56_508+58delinsTTG
XM_017011820.2:c.340+56_340+58delinsTTG	XP_016867309.1:n.340+56_340+58delinsTTG
XM_017011821.1:c.157+56_157+58delinsTTG	XP_016867310.1:n.157+56_157+58delinsTTG
XM_024446680.1:c.385+56_385+58delinsTTG	XP_024302448.1:n.385+56_385+58delinsTTG
XR_001744581.1:n.3123+56_3123+58delinsTTG
XR_002956413.1:n.3121+56_3121+58delinsTTG
XR_002956414.1:n.3123+56_3123+58delinsTTG
NM_001203247.2:c.484+56_484+58delinsTTG	NP_001190176.1:n.484+56_484+58delinsTTG
NM_001203248.2:c.457+56_457+58delinsTTG	NP_001190177.1:n.457+56_457+58delinsTTG
NM_001203249.2:c.457+56_457+58delinsTTG	NP_001190178.1:n.457+56_457+58delinsTTG
NM_004456.5:c.484+56_484+58delinsTTG MANE Select	NP_004447.2:n.484+56_484+58delinsTTG
NM_152998.3:c.367+56_367+58delinsTTG	NP_694543.1:n.367+56_367+58delinsTTG